المؤلفون: Jung Il Lee, Donggeon Kim, Ho Jun Seol, Jung Won Choi, Do-Hyun Nam, Junfei Zhao, Yun Sik Dho, Yeon-Lim Suh, Hee Jin Cho, Yeri Lee, Jason K. Sa, Mykola Bordyuh, Do Hoon Lim, Woong-Yang Park, Sang Won Jung, Sung Tae Kim, Hyun Ju Kang, Sun Hee Ahn, Yun Jee Seo, Doo Sik Kong, Raul Rabadan, Chul-Kee Park, Erik Ladewig

المصدر: Translational Cancer Research

مصطلحات موضوعية: Adult, Male, Cancer Research, Cerebellum, PDGFRA, Biology, urologic and male genital diseases, Malignant transformation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Biomarkers, Tumor, medicine, Humans, Molecular Targeted Therapy, Cerebellar Neoplasms, Protein Kinase Inhibitors, ATRX, Aged, Retrospective Studies, Aged, 80 and over, Brain Neoplasms, urogenital system, MEK inhibitor, Genomics, DNA Methylation, Middle Aged, Prognosis, Isocitrate Dehydrogenase, nervous system diseases, Gene Expression Regulation, Neoplastic, Survival Rate, Editorial Commentary, medicine.anatomical_structure, MRNA Sequencing, Oncology, 030220 oncology & carcinogenesis, Basic and Translational Investigations, Genomic Profile, DNA methylation, Cancer research, Female, Neurology (clinical), Gene Fusion, Glioblastoma, Transcriptome, 030217 neurology & neurosurgery, Follow-Up Studies

الوصف: Background Despite extensive efforts on the genomic characterization of gliomas, very few studies have reported the genetic alterations of cerebellar glioblastoma (C-GBM), a rare and lethal disease. Here, we provide a systematic study of C-GBM to better understand its specific genomic features. Methods We collected a cohort of C-GBM patients and compared patient demographics and tumor pathologies with supratentorial glioblastoma (S-GBM). To uncover the molecular characteristics, we performed DNA and mRNA sequencing and DNA methylation arrays on 19, 6, and 4 C-GBM cases, respectively. Moreover, chemical drug screening was conducted to identify potential therapeutic options for C-GBMs. Results Despite differing anatomical origins of C-GBM and S-GBM, neither histological, cytological, nor patient demographics appeared significantly different between the 2 types. However, we observed striking differences in mutational patterns, including frequent alterations of ATRX, PDGFRA, NF1, and RAS and absence of EGFR alterations in C-GBM. These results show a distinct evolutionary path in C-GBM, suggesting specific therapeutic targeted options. Targeted-drug screening revealed that C-GBMs were more responsive to mitogen-activated protein kinase kinase (MEK) inhibitor and resistant to epidermal growth factor receptor inhibitors than S-GBMs. Also, differential expression analysis indicated that C-GBMs may have originated from oligodendrocyte progenitor cells, suggesting that different types of cells can undergo malignant transformation according to their location in brain. Master regulator analysis with differentially expressed genes between C-GBM and proneural S-GBM revealed NR4A1 as a potential therapeutic target. Conclusions Our results imply that unique gliomagenesis mechanisms occur in adult cerebellum and new treatment strategies are needed to provide greater therapeutic benefits for C-GBM patients. Key points 1. Distinct genomic profiles of 19 adult cerebellar GBMs were characterized. 2. MEK inhibitor was highly sensitive to cerebellar GBM compared with supratentorial GBM. 3. Master regulator analysis revealed NR4A1 as a potential therapeutic target in cerebellar GBM.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::064dffcbf6dc92b1d15bfc5329c5632c
https://doi.org/10.1093/neuonc/noy123

المؤلفون: Pau Kiew Kong, Sivakumar Sivalingam, Jeswant Dillon, Paneer Selvam Krishna Moorthy, Mohd Azhari Yakub

المصدر: Interactive CardioVascular and Thoracic Surgery. 28:191-198

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Mitral Valve Annuloplasty, Adolescent, Heart disease, medicine.medical_treatment, Disease, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Mitral valve, medicine, Long term outcomes, Humans, In patient, Postoperative Period, Child, Heart Valve Prosthesis Implantation, Mitral regurgitation, Mitral valve repair, business.industry, Rheumatic Heart Disease, Mitral Valve Insufficiency, Mean age, medicine.disease, Surgery, Treatment Outcome, medicine.anatomical_structure, 030228 respiratory system, Mitral Valve, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies, Forecasting

الوصف: OBJECTIVES Contemporary experience in mitral valve (MV) repair for children with rheumatic heart disease (RHD) is limited, despite the potential advantages of repair over replacement. We reviewed our long-term outcomes of rheumatic MV repair and compared them with the outcomes of MV replacement in children with RHD. METHODS This study is a review of 419 children (≤18 years) with RHD who underwent primary isolated MV surgery between 1992 and 2015, which comprised MV repair (336 patients; 80.2%) and MV replacement (83 patients; 19.8%). The replacement group included mechanical MV replacements (MMVRs) (n = 69 patients; 16.5%) and bioprosthetic MV replacements (n = 14 patients; 3.3%). The mean age with standard deviation at the time of operation was 12.5 ± 3.5 (2-18) years. Mitral regurgitation (MR) was predominant in 390 (93.1%) patients, and 341 (81.4%) patients showed ≥3+ MR. The modified Carpentier reconstructive techniques were used for MV repair. RESULTS Overall early mortality was 1.7% (7 patients). The mean follow-up was 5.6 years (range 0-22.3 years; 94.7% complete). Survival of patients who underwent repair was 93.9% both at 10 and 20 years, which was superior than that of replacement (P

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0ffed8b5168b212ab43be2287106625
https://doi.org/10.1093/icvts/ivy234

المؤلفون: Matthew Coates, Emmanuelle Williams, Lan Kong, Andrew Tinsley, Seyedehsan Navabi, Guodong Liu, Kofi Clarke

المصدر: Inflammatory Bowel Diseases. 25:369-376

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, medicine.disease_cause, Rate ratio, Severity of Illness Index, Inflammatory bowel disease, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, Influenza, Human, Severity of illness, medicine, Humans, Immunology and Allergy, 030212 general & internal medicine, Aged, Retrospective Studies, business.industry, Incidence, Incidence (epidemiology), Gastroenterology, Case-control study, Retrospective cohort study, Odds ratio, Middle Aged, Pennsylvania, Immune dysregulation, Inflammatory Bowel Diseases, Prognosis, medicine.disease, digestive system diseases, Hospitalization, Survival Rate, Influenza A virus, Case-Control Studies, Female, 030211 gastroenterology & hepatology, business, Follow-Up Studies

الوصف: Background Diseases of immune dysregulation are associated with an increased risk of viral infections, some of which may be preventable. To date, there are very limited data on the incidence and risk of influenza and related complications in patients with inflammatory bowel disease (IBD). Furthermore, the impact of immunosuppressive medications on that risk is unclear. Therefore, the aim of this study was to estimate the incidence and severity of influenza infections in IBD patients. In addition, we looked specifically at the effect of medications on influenza risk. Methods Using the MarketScan Database (January 2008 to December 2011), we conducted a retrospective cohort study to estimate the incidence of influenza and risk of related complications in IBD patients compared with those without IBD. We employed a nested case-control study design to evaluate the potential independent effect of IBD medications on influenza risk. Results A total of 140,480 patients with IBD and non-IBD controls were studied. There were 2963 patients with influenza compared with 1941 non-IBD subjects. Inflammatory bowel disease patients had an increased influenza risk compared with those without IBD (incidence rate ratio, 1.54; 95% confidence interval [CI], 1.49-1.63). A higher rate of hospitalizations (162/2994 [5.4%] vs 36/1941 [1.85%]; P < 0.001) was noted. Systemic corticosteroids were found to be independently associated with influenza (odds ratio, 1.22; 95% CI, 1.08-1.38). Conclusions Inflammatory bowel disease patients had an increased risk of influenza compared with those without IBD and were more likely to require hospitalization. Steroids were the only medication class independently associated with flu risk.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::789bbea8a82743f02dcef3f07594ac19
https://doi.org/10.1093/ibd/izy243

المؤلفون: Yuan Liu, Yinglun Han, Pengcheng Ma, Xuebin Qi, Chao Gong, Zhaohui Yang, Qingwei Li, Hong Shi, Qinghong Kong, Qi Zhao, Tianhao Bian, Hua Chen, Xiaoming Zhang, Jiewei Liu, Shilei Zhao, Bing Su

المصدر: Molecular Biology and Evolution. 35:2272-2283

مصطلحات موضوعية: Male, 0301 basic medicine, Ultraviolet Rays, Acclimatization, Population, Light skin, Skin Pigmentation, Biology, 03 medical and health sciences, Asian People, High latitude, Genetics, Humans, Selection, Genetic, Allele, education, Molecular Biology, Gene, Ecology, Evolution, Behavior and Systematics, Stem Cell Factor, education.field_of_study, Natural selection, Positive selection, Cold Temperature, 030104 developmental biology, Evolutionary biology, Skin color, Female

الوصف: Human skin color diversity is considered an adaptation to environmental conditions such as UV radiation. Investigations into the genetic bases of such adaptation have identified a group of pigmentation genes contributing to skin color diversity in African and non-African populations. Here, we present a population analysis of the pigmentation gene KITLG with previously reported signal of Darwinian positive selection in both European and East Asian populations. We demonstrated that there had been recurrent selective events in the upstream and the downstream regions of KITLG in Eurasian populations. More importantly, besides the expected selection on the KITLG variants favoring light skin in coping with the weak UV radiation at high latitude, we observed a KITLG variant showing adaptation to winter temperature. In particular, compared with UV radiation, winter temperature showed a much stronger correlation with the prevalence of the presumably adaptive KITLG allele in Asian populations. This observation was further supported by the in vitro functional test at low temperature. Consequently, the pleiotropic effects of KITLG, that is, pigmentation and thermogenesis were both targeted by natural selection that acted on different KITLG sequence variants, contributing to the adaptation of Eurasians to both UV radiation and winter temperature at high latitude areas.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be4fa772c07399ac9c5db60b6a5d0bef
https://doi.org/10.1093/molbev/msy136

المؤلفون: Mignonne C. Guy, Patricia Simon, Maria R Cooper, Lauren R. Pacek, Grace Kong, Cassandra A. Stanton, Jessica L. Barrington-Trimis

المصدر: Nicotine & Tobacco Research. 21:1590-1599

مصطلحات موضوعية: Time Factors, Adolescent, Population, MEDLINE, Reviews, 01 natural sciences, Smoking Water Pipes, Tobacco Use, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Environmental health, Prevalence, Humans, 030212 general & internal medicine, 0101 mathematics, Tobacco Use Epidemiology, Child, education, education.field_of_study, Smoking, 010102 general mathematics, Tobacco control, Public Health, Environmental and Occupational Health, United States, Risk perception, Systematic review, Psychology, Psychosocial, Inclusion (education)

الوصف: Introduction Given the US Food and Drug Administration (FDA)’s authority to regulate hookah, more research is needed to inform regulations intended to prevent youth from using hookah. This systematic review summarizes and assesses the literature related to hookah use among adolescents (11 to ≤18 years of age) in the United States from 2009 to 2017. Methods Database searches yielded 867 peer-reviewed articles. After duplicates were removed, authors reviewed 461 articles for inclusion. Included articles (n = 55) were coded for study themes, study quality, and their relevance to FDA’s research priorities. A qualitative synthesis is presented. Results The following themes were identified: (1) prevalence of hookah use (n = 42), (2) tobacco use transitions (n = 7), (3) sociodemographic correlates (n = 35), (4) psychosocial risk factors (n = 21), (5) concurrent use of other tobacco products (n = 31), (6) concurrent use of other substances (n = 9), and (7) other (n = 15)—which includes low prevalence themes. The qualitative synthesis showed increasing rates of hookah use. Older age, male gender, positive social normative beliefs, higher peer use, as well as lower perceived risk were associated with hookah use. Longitudinal studies of youth hookah use showed bidirectional relationships between use of hookah and other tobacco products. All articles fell within FDA’s research priority related to “behavior,” and three priorities (“impact analysis,” “health effects,” and “toxicity”) have not been explored for hookah use among US youth since 2009. Conclusions The prevalence of hookah use among youth in the United States is increasing, thus more research is needed to inform policies targeted to protect this vulnerable population. Implications This study represents a novel contribution to our understanding of hookah use among youth in the United States from 2009—the year that the Family Smoking Prevention and Tobacco Control Act was passed—to 2017. In recent years, hookah has become a more popular tobacco product among US youth; however, to date, no systematic reviews of hookah use among this population exist. Results highlight implications for future US FDA regulatory policy and identify gaps in research to be addressed in future studies.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01b63242cbed4339916506bdc5eb810f
https://doi.org/10.1093/ntr/nty135

المؤلفون: Ling Yuan Kong, Jun Yan, Ravesanker Ezhilarasan, Ganiraju C. Manyam, Khatri Latha, Suyun Huang, R. Eric Davis, Erik P. Sulman, Shulin Li, Arvind Rao, Ganesh Rao, Qianghu Wang, Loyola V. Gressot, Yuhui Yang, Gregory N. Fuller, Amy B. Heimberger

المصدر: JNCI: Journal of the National Cancer Institute. 111:292-300

مصطلحات موضوعية: Adult, Cancer Research, medicine.medical_treatment, Brain tumor, T-Lymphocytes, Regulatory, Malignant transformation, Mice, 03 medical and health sciences, 0302 clinical medicine, Glioma, Tumor Microenvironment, medicine, Animals, Humans, Survival rate, Aged, Aged, 80 and over, Immunosuppression Therapy, business.industry, Fibrinogen, FOXP3, Immunosuppression, Articles, Middle Aged, Prognosis, medicine.disease, FGL2, Mice, Inbred C57BL, Survival Rate, Cell Transformation, Neoplastic, Oncology, Tumor progression, 030220 oncology & carcinogenesis, Disease Progression, Cancer research, business

الوصف: BACKGROUND: Virtually all low-grade gliomas (LGGs) will progress to high-grade gliomas (HGGs), including glioblastoma, the most common malignant primary brain tumor in adults. A key regulator of immunosuppression, fibrinogen-like protein 2 (FGL2), may play an important role in the malignant transformation of LGG to HGG. We sought to determine the mechanism of FGL2 on tumor progression and to show that inhibiting FGL2 expression had a therapeutic effect. METHODS: We analyzed human gliomas that had progressed from low- to high-grade for FGL2 expression. We modeled FGL2 overexpression in an immunocompetent genetically engineered mouse model to determine its effect on tumor progression. Tumors and their associated microenvironments were analyzed for their immune cell infiltration. Mice were treated with an FGL2 antibody to determine a therapeutic effect. Statistical tests were two-sided. RESULTS: We identified increased expression of FGL2 in surgically resected tumors that progressed from low to high grade (n = 10). The Cancer Genome Atlas data showed that LGG cases with overexpression of FGL2 (n = 195) had statistically significantly shorter survival (median = 62.9 months) compared with cases with low expression (n = 325, median = 94.4 months, P < .001). In a murine glioma model, HGGs induced with FGL2 exhibited a mesenchymal phenotype and increased CD4(+) forkhead box P3 (FoxP3)(+) Treg cells, implicating immunosuppression as a mechanism for tumor progression. Macrophages in these tumors were skewed toward the immunosuppressive M2 phenotype. Depletion of Treg cells with anti-FGL2 statistically significantly prolonged survival in mice compared with controls (n = 11 per group, median survival = 90 days vs 62 days, P = .004), shifted the phenotype from mesenchymal HGG to proneural LGG, and decreased M2 macrophage skewing. CONCLUSIONS: FGL2 facilitates glioma progression from low to high grade. Suppressing FGL2 expression holds therapeutic promise for halting malignant transformation in glioma.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0480bfba307ca23899f8fa86a8aacc
https://doi.org/10.1093/jnci/djy107

المؤلفون: Kong Aps, Risa Ozaki, Luk Aoy, Fu Awc, Lau Esh, Chan Jcn, Cheung Kkt, Ma Rcw, Lim Ll

المصدر: Nephrology Dialysis Transplantation

مصطلحات موضوعية: Male, autonomic dysfunction, 030232 urology & nephrology, Kaplan-Meier Estimate, Type 2 diabetes, 030204 cardiovascular system & hematology, Kidney, 0302 clinical medicine, Diabetic Neuropathies, Risk Factors, Interquartile range, Electrochemistry, Prospective Studies, Registries, Child, Prospective cohort study, Skin, Hazard ratio, Middle Aged, Cardiovascular Diseases, Nephrology, Area Under Curve, Child, Preschool, Cohort, Disease Progression, Female, Cohort study, Adult, medicine.medical_specialty, Asia, Adolescent, 03 medical and health sciences, Asian People, Clinical Research, Internal medicine, cohort study, medicine, Humans, Mortality, Renal Insufficiency, Chronic, Risk factor, Aged, Proportional Hazards Models, Transplantation, business.industry, Electric Conductivity, medicine.disease, Diabetes Mellitus, Type 2, ORIGINAL ARTICLES, business, chronic kidney disease, Follow-Up Studies, Kidney disease

الوصف: BackgroundEarly detection and risk factor control prevent chronic kidney disease (CKD) progression. Evaluation of peripheral autonomic dysfunction may detect incident cardiovascular–renal events in type 2 diabetes (T2D).MethodsSUDOSCAN, a non-invasive tool, provides an age-adjusted electrochemical skin conductance (ESC) composite score incorporating hands/feet ESC measurements, with a score ≤53 indicating sudomotor dysfunction. A consecutive cohort of 2833 Chinese adults underwent structured diabetes assessment in 2012–13; 2028 participants without preexisting cardiovascular disease (CVD) and CKD were monitored for incident cardiovascular–renal events until 2015.ResultsIn this prospective cohort {mean age 57.0 [standard deviation (SD) 10.0] years; median T2D duration 7.0 [interquartile range (IQR) 3.0–13.0] years; 56.1% men; 72.5% never-smokers; baseline ESC composite score 60.7 (SD 14.5)}, 163 (8.0%) and 25 (1.2%) participants developed incident CKD and CVD, respectively, after 2.3 years of follow-up. The adjusted hazard ratios (aHRs) per 1-unit decrease in the ESC composite score for incident CKD, CVD and all-cause death were 1.02 [95% confidence interval (CI) 1.01–1.04], 1.04 (1.00–1.07) and 1.04 (1.00–1.08), respectively. Compared with participants with an ESC composite score >53, those with a score ≤53 had an aHR of 1.56 (95% CI 1.09–2.23) for CKD and 3.11 (95% CI 1.27–7.62) for CVD, independent of common risk markers. When added to clinical variables (sex and duration of diabetes), the ESC composite score improved discrimination of all outcomes with appropriate reclassification of CKD risk.ConclusionsA low ESC composite score independently predicts incident cardiovascular–renal events and death in T2D, which may improve the screening strategy for early intervention.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2872078bd571bffc435b441a9c91415
https://doi.org/10.1093/ndt/gfy154

المؤلفون: Mark D Rothenberg, Hussein R. Al-Khalidi, Diane Joseph, Mitchell W. Krucoff, David F. Kong, Shigeru Nakamura, Shigeru Saito, Gudaye Tasissa, Hiram G. Bezerra, Barry D. Bertolet, Akiko Maehara, Roxana Mehran, Philippe Généreux, Yumiko Okaniwa, Yoshisato Shibata, Stephen M. Rowland, Debbie Morrell

المصدر: European Heart Journal

مصطلحات موضوعية: Male, medicine.medical_treatment, Myocardial Ischemia, Antigens, CD34, Fractional flow reserve, 030204 cardiovascular system & hematology, Coronary Angiography, Percutaneous coronary intervention, 0302 clinical medicine, Japan, Recurrence, Clinical endpoint, Single-Blind Method, 030212 general & internal medicine, Non-ST Elevated Myocardial Infarction, Endothelial progenitor cells, Drug-Eluting Stents, Middle Aged, Coronary Vessels, Interventional Cardiology, Fractional Flow Reserve, Myocardial, Randomized controlled trial, Metals, Drug-eluting stent, Cardiology, Female, Stents, Cardiology and Cardiovascular Medicine, Immunosuppressive Agents, Tomography, Optical Coherence, Acute coronary syndrome, medicine.medical_specialty, Equivalence Trials as Topic, Dual therapy stent, Antibodies, 03 medical and health sciences, Clinical Research, Internal medicine, medicine, Humans, Everolimus, Acute Coronary Syndrome, Aged, business.industry, Stent, equipment and supplies, medicine.disease, United States, Editor's Choice, Conventional PCI, business

الوصف: Aims Harmonized Assessment by Randomized Multicentre Study of OrbusNEich’s Combo StEnt (HARMONEE) (NCT02073565) was a randomized pivotal registration trial of the Combo stent, which combined sirolimus and an abluminal bioabsorbable polymer with a novel endoluminal anti-CD34+ antibody coating designed to capture endothelial progenitor cells (EPC) and promote percutaneous coronary intervention (PCI) site healing. Methods and results Clinically stabilized PCI subjects were randomized 1:1 to receive Combo or everolimus-eluting stents (EES). Between February 2014 and June 2016, 572 subjects with 675 coronary lesions underwent 1-year angiography and fractional flow reserve, with optical coherence tomography (OCT) in the first 140 patients. The primary clinical endpoint was non-inferior 1-year target vessel failure (TVF). The primary mechanistic endpoint of EPC capture activity was superior strut coverage by OCT. Target vessel failure occurred in 7.0% Combo (20/287) vs. 4.2% EES (12/285), a 2.8% [95% confidence interval (95% CI) −1.0%, 6.5%] difference, meeting the non-inferiority hypothesis (P = 0.02). There were no cardiac deaths, with one stent thrombosis observed in the EES group. Quantitative coronary angiography late loss with Combo was equivalent to EES. Optical coherence tomography strut coverage at 1 year was superior with Combo vs. EES [91.3% (95% CI 88.7%, 93.8%) vs. 74.8% (95% CI 70.0%, 79.6%), P

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5048d12a3a794d8590d8bc9a0a695e5e
https://doi.org/10.1093/eurheartj/ehy275

المؤلفون: Feifei Zhou, S Zhao, Xudong Zhang, Jichun Tan, Xiaoyan Xu, Pingping Li, X Xin, C Chen, Lin Kong

المصدر: Human Reproduction. 33:1364-1369

مصطلحات موضوعية: Adult, 0301 basic medicine, Infertility, Proband, endocrine system, medicine.medical_specialty, medicine.medical_treatment, Nonsense mutation, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Mutation, Disorder of Sex Development, 46,XY, 030219 obstetrics & reproductive medicine, Rehabilitation, Female infertility, Obstetrics and Gynecology, Receptors, LH, medicine.disease, Pedigree, 030104 developmental biology, Endocrinology, Reproductive Medicine, Codon, Nonsense, Female, Ovulation induction, Luteinizing hormone, Infertility, Female

الوصف: Empty follicle syndrome (EFS) is a disorder associated with female infertility and presents as a complete failure to retrieve oocytes during ART cycles despite normal follicle development and careful aspiration. To date, only two EFS cases have been reported with homozygous missense mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, and both cases showed normal estradiol (E2) production during ovulation induction. The molecular genetic mechanisms of EFS remain unknown. Herein, we report two novel homozygous inactivating LHCGR mutations, c.736 C>T (p.Q246*) and c.846dupT (p.R283*), in two female EFS patients from unrelated consanguineous families. The probands had impaired E2 production during the ART process, which differs from previously reported EFS cases. The inactivating mutations not only led to EFS in the two female probands, but also resulted in 46, XY disorder of sex development (46, XY DSD) in their male siblings. As far as we know, this is the first report of LHCGR mutations leading to both EFS and 46, XY DSD within the same pedigree. Our findings provide researchers and clinicians with a better understanding of phenotype-genotype correlations between EFS and 46, XY DSD and the LHCGR gene.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0221e3694e3a1f18ef17242e6e711b1
https://doi.org/10.1093/humrep/dey215

المؤلفون: Mabel Rodrigues, Jennifer L. Guthrie, James C. Johnston, Danielle Jorgensen, Patrick Tang, Andy Delli Pizzi, Jennifer L. Gardy, David Roth, Clare Kong, Victoria J. Cook

المصدر: The Journal of Infectious Diseases

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Tuberculosis, Adolescent, Genotype, Genotyping Techniques, Genomic data, 030106 microbiology, genomic epidemiology, Mycobacterium tuberculosis, Major Articles and Brief Reports, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, Humans, Immunology and Allergy, Medicine, 030212 general & internal medicine, Child, Genotyping, Phylogeny, Demography, Retrospective Studies, Whole genome sequencing, Bacteria, British Columbia, Whole Genome Sequencing, biology, business.industry, Transmission (medicine), transmission, Place of birth, medicine.disease, biology.organism_classification, 3. Good health, pediatric, Infectious Diseases, tuberculosis, Child, Preschool, Female, business

الوصف: Retrospective genotyping and whole-genome sequencing over a 10-year period suggested that pediatric tuberculosis in British Columbia is a mosaic and factors including age, birthplace, and travel history must all be considered together when inferring a pediatric patient’s likely exposure.
Background Tuberculosis (TB) in children is often an indicator of recent transmission. Genotyping and whole-genome sequencing (WGS) can enhance pediatric TB investigations by confirming or refuting transmission events. Methods Mycobacterium tuberculosis isolates from all pediatric patients

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df04c65e5c7478d31c6b59f0cffeb7cd
https://doi.org/10.1093/infdis/jiy278